Evidence map›Paper›PMID 41233957›Full record

ArticleNucleic acids research2026

ClinMAVE: a curated database for clinical application of data from multiplexed assays of variant effect.

Chenyu Ma, Zhao Li, Xin Tang, Pan Li, Li Li, Shiting Wang, Jiayu Wu, Liheng Luo, Yaping Liu, Zhang Zhang and 1 more

Abstract read
In one paragraph

Article in Nucleic acids research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Reassessing BenignGenes · 2026
    Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Chenyu MaState Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Zhao LiNational Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China.ORCID 0000-0001-7374-3348
Xin TangState Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Pan LiNational Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China.
Li LiCenter for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Shiting WangNational Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China.
Jiayu WuState Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Liheng LuoState Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Yaping LiuCenter for Rare Diseases; State Key Laboratory of Complex, Severe, and Rare Diseases; Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Zhang ZhangNational Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China.ORCID 0000-0001-6603-5060
Xiaoyue WangState Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.ORCID 0000-0002-0208-5322

Funding

National High Level Hospital Clinical Research Funding 2025-PUMCH-C-008National Natural Science Foundation of China 32030021National Natural Science Foundation of China 32400498National Natural Science Foundation of China 32470667National Natural Science Foundation of China T2425005National Science and Technology Major Project 2023ZD0500600Postdoctoral Fellowship Program of CPSF GZC20240156
6 · The paper itself

Abstract

The widespread use of next-generation sequencing in clinical practice has generated vast numbers of genetic variants from both inherited disorders and tumor profiling, many classified as variants of uncertain significance (VUS). These uncertain variants limit the clinical utility of genomic testing by constraining risk assessment, diagnosis, and treatment selection. Multiplexed Assays of Variant Effect (MAVEs) provide scalable, high-throughput functional data for variant characterization and are recognized by ACMG/AMP guidelines as valid evidence for clinical classification. However, existing resources lack harmonized annotations, structured evidence grading, and interoperability with clinical databases needed for application in genetic disease and somatic cancer workflows. Here, we developed ClinMAVE (https://ngdc.cncb.ac.cn/clinmave/), a curated database for clinical application of MAVE data. ClinMAVE offers functional evidence for over 2.1 million variants across 821 genes, with standardized annotations, detailed assay context, and ACMG/AMP-aligned evidence grading. Integrated with ClinVar, gnomAD, TCGA, and in silico tools, ClinMAVE bridges the gap between experimental data and clinical standards, providing a unified, clinician-ready platform for functional variant interpretation in both hereditary disease and cancer genomics.

Indexed as

Databases, GeneticGenetic VariationNeoplasmsGenomicsHigh-Throughput Nucleotide SequencingHumansSoftware

Identifiers

PMID41233957
PMCPMC12807648

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.